Phenotypes associated with this allele

• Allele Symbol: Opa1^Q285X
• Allele Name: Q285X
• Allele ID: MGI:3711758
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Opa1^Q285X/Opa1^Q285X	involves: C3HeB/FeJ * C57BL/6JCrl	MGI:3712039
ht2	Opa1^Q285X/Opa1^+	involves: C3HeB/FeJ * C57BL/6JCrl	MGI:3712038

Genotype
MGI:3712039

hm1

• Allelic Composition: Opa1^Q285X/Opa1^Q285X
• Genetic Background: involves: C3HeB/FeJ * C57BL/6JCrl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121779 )

• pups die between E11 and E14.5

embryo

abnormal embryo development ( J:121779 )

• at E11, pups have gross morphological abnormalities

abnormal embryo turning ( J:121779 )

• one embryo failed to turn

embryonic growth retardation ( J:121779 )

• at E11

decreased embryo size ( J:121779 )

• at E11

nervous system

abnormal forebrain development ( J:121779 )

• one embryo exhibited forebrain truncation

growth/size/body

embryonic growth retardation ( J:121779 )

• at E11

decreased embryo size ( J:121779 )

• at E11

Genotype
MGI:3712038

ht2

• Allelic Composition: Opa1^Q285X/Opa1⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6JCrl

reproductive system

reproductive system phenotype ( J:121779 )

N • mice are fertile

vision/eye

abnormal optic nerve morphology ( J:121779 )

• at 18 months, the optic nerve has defects in myelin bundles and optic nerve fascicles appearing as gross whirls of myelin along the nerve

• however, mice have normal optic nerves and retinas at 6 months of age

abnormal eye electrophysiology ( J:189276 )

• 11-13 month old mutants exhibit deficits in light-adapted visual responses; although the positive peak of the b-wave is similar to wild-type, the amplitude of the photopic negative response (immediately following negative deflection) is reduced at the two brightest intensities tested

• however, 11-13 month old mutants exhibit normal dark-adapted visual responses

• both rod and cone visual pathways remain in tact, however the differences in late evolving components of the light-adapted ERG and flash VEP responses that are seen indicate ganglion cell dysfunction

abnormal visual evoked potential ( J:189276 )

• 11-13 month old mutants exhibit deficits in light-adapted flash visually evoked potentials (VEPs), showing a normal negative N1 component but a reduction in the subsequent positive deflection (P2 wave) at the brightest intensity tested

abnormal vision ( J:121779 )

• at 6 and 12 months, mice are not functionally totally blind

• at 12 months, mice track less well on all three gratings indicating a decrease in visual acuity

• at 12 months, mice exhibit increased nocturnal running when exposed to a light unlike wild-type mice indicating a reduction in vision

behavior/neurological

abnormal response to new environment ( J:121779 )

• at 6 months, when transferred into an arena mice exhibit transfer arousal, freezing in place for a longer period of time than controls, decreased locomotor activity and increased provoked biting response

cellular

abnormal mitochondrial morphology ( J:121779 )

• most mice display cells that have punctuated and completely dispersed mitochondria throughout the cytosol and nucleus, thereby giving cells a 'powdered' appearance

nervous system

abnormal forebrain development ( J:121779 )

• some embryos exhibit forebrain truncation

abnormal optic nerve morphology ( J:121779 )

• at 18 months, the optic nerve has defects in myelin bundles and optic nerve fascicles appearing as gross whirls of myelin along the nerve

• however, mice have normal optic nerves and retinas at 6 months of age

embryo

embryonic growth retardation ( J:121779 )

• some embryos

growth/size/body

embryonic growth retardation ( J:121779 )

• some embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
optic atrophy		DOID:5723	OMIM:PS165500	J:121779 , J:189276